Asociaci\u00f3n Espa\u00f1ola Contra el C\u00e1ncer<\/em>.<\/p>\nTots els tipus de c\u00e0ncer s\u00f3n conseq\u00fc\u00e8ncia d\u2019alteracions en el material gen\u00e8tic de les c\u00e8l\u00b7lules, que fan que aquestes perdin la seva funci\u00f3 i esdevinguin malignes. En el 90 o 95% dels casos de persones amb c\u00e0ncer, aquestes han nascut amb els gens funcionant correctament fins que, per factors externs, per errors que es poden produir durant la replicaci\u00f3 normal de l\u2019ADN o pel pas del temps, el material gen\u00e8tic, que sempre havia funcionat correctament, s\u2019espatlla. Quan els gens adopten alteracions o mutacions, aquestes no els permeten realitzar la seva funci\u00f3 de manera adequada. Un percentatge petit de persones ja neixen amb un error en el material gen\u00e8tic que augmenta molt les possibilitats de patir c\u00e0ncer. Quan aquesta \u00e9s la principal causa de l\u2019aparici\u00f3 de la malaltia, parlem de predisposici\u00f3 heredit\u00e0ria al c\u00e0ncer o de c\u00e0ncer hereditari. Es calcula que nom\u00e9s entre el 5 i el 10% de tots els tumors s\u00f3n hereditaris. La s\u00edndrome de Lynch, tamb\u00e9 denominada c\u00e0ncer colorectal hereditari no associat a poliposi (en angl\u00e8s HNPCC), \u00e9s una malaltia heredit\u00e0ria que incrementa el risc de patir diversos tumors, especialment c\u00e0ncer de c\u00f2lon i endometri; essent la responsable d\u2019entre el 2 i el 5% dels casos.<\/p>\n
La recerca publicada a Nature genetics<\/em> s\u2019ha centrat en estudiar les causes gen\u00e8tiques de la s\u00edndrome de Lynch. Sovint, el resultat de l\u2019estudi gen\u00e8tic de pacients amb aquesta s\u00edndrome no \u00e9s informatiu, ja que s\u2019identifiquen variants gen\u00e8tiques de les quals no es coneix la rellev\u00e0ncia: no se\u2019n pot predir el significat biol\u00f2gic ni la repercussi\u00f3 cl\u00ednica. Es desconeix, doncs, si aquests pacients presenten un risc m\u00e9s elevat de patir altres c\u00e0ncers, o si els seus familiars tamb\u00e9 estan en risc.<\/p>\nL\u2019equip investigador ha recopilat dades de milers de variants gen\u00e8tiques identificades en els gens reparadors arreu del m\u00f3n, candidates a ser responsables de s\u00edndrome de Lynch. S\u2019ha realitzat un esfor\u00e7 global per tal de refinar aquesta informaci\u00f3 en una base de dades p\u00fablica. El model \u2013que ha utilitzat l\u2019expertesa d\u2019investigadors i cl\u00ednics arreu del m\u00f3n amb coneixement d\u2019aquesta s\u00edndrome\u2013 ha perm\u00e8s essencialment que dades de seq\u00fcenciaci\u00f3 puguin traduir-se en informaci\u00f3 \u00fatil cl\u00ednicament. A trav\u00e9s d\u2019aquest esfor\u00e7 col\u00b7laboratiu s\u2019ha aconseguit la classificaci\u00f3 d\u2019un gran nombre de variants de significat desconegut. La classificaci\u00f3 d\u2019una variant com a responsable de s\u00edndrome de Lynch \u00e9s clau per a l\u2019assessorament gen\u00e8tic de les fam\u00edlies, permetent l\u2019estudi predictiu de familiars en risc i, si s\u00f3n portadors, ajudar-los a prendre les mesures de prevenci\u00f3 i seguiment adequades.<\/p>\n","protected":false},"excerpt":{"rendered":"
Un estudi internacional amb participaci\u00f3 catalana ha desenvolupat un m\u00e8tode acurat per a la identificaci\u00f3 de persones en risc de patir certs c\u00e0ncers hereditaris com a conseq\u00fc\u00e8ncia de la s\u00edndrome de Lynch. L\u2019estudi, publicat a Nature Genetics (http:\/\/dx.doi.org\/10.1038\/ng.2854), l\u2019han dut a terme cl\u00ednics i investigadors que formen part de l\u2019InSiGHT (International Society for Gastroeintestinal Hereditary […]<\/p>\n","protected":false},"author":6,"featured_media":11059,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[1,332,417,447],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-15 00:17:56","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8447"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8447"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8447\/revisions"}],"predecessor-version":[{"id":19694,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8447\/revisions\/19694"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/11059"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8447"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8447"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8447"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}